Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
- Chami, N. (Nathalie)
- Chen, Ming-Huei
- Slater, A.J. (Andrew J.)
- Eicher, J.D. (John D.)
- Evangelou, Evangelos
- Tajuddin, S.M. (Salman M.)
- Love-Gregory, L. (Latisha)
- Kacprowski, Tim
- Schick, Ursula
- Nomura, A. (Akihiro)
- Giri, A. (Ayush)
- Lessard, S. (Samuel)
- Brody, Jennifer A.
- Schurmann, Claudia
- Pankratz, Shane
- Yanek, Lisa
- Manichaikul, Ani
- Pazoki, Raha
- Mihailov, Evelin
- Hill, W. David
- Raffield, L.M. (Laura M.)
- Burt, Alastair
- Bartz, Traci M.
- Becker, Diane
- Becker, Lewis
- Boerwinkle, Eric
- Bork-Jensen, Jette
- Bottinger, Erwin
- O'Donoghue, Michelle L.
- Crosslin, David
- de Denus, S. (Simon)
- Dubé, M.-P. (Marie-Pierre)
- Elliott, Paul
- Engström, G.
- Evans, Michele
- Floyd, James
- Fornage, Myriam
- Gao, H. (He)
- Greinacher, Andreas
- Gudnason, Vilmundur
- Hansen, T.
- Harris, Tamara
- Hayward, Caroline
- Hernesniemi, J. (Jussi)
- Highland, Heather
- Hirschhorn, Joel
- Hofman, A. (Albert)
- Irvin, M.R. (Marguerite R.)
- Kähönen, Mika
- Lange, Ethan
- Launer, L.J. (Lenore J.)
- Lehtimäki, Terho
- Li, J. (Jin)
- Liewald, David
- Linneberg, Allan
- Liu, YongMei
- Lu, Yingchang
- Lyytikäinen, Leo-Pekka
- Mägi, Reedik
- Mathias, Jasmine
- Melander, Olle
- Metspalu, Andres
- Mononen, Kari
- Nalls, Michael
- Nickerson, Deborah
- Nikus, Kjell
- O'Donnell, Christopher
- Orho-Melander, Marju
- Pedersen, Oluf
- Petersmann, Astrid
- Polfus, L. (Linda)
- Psaty, Bruce
- Raitakari, Olli T.
- Raitoharju, E. (Emma)
- Richard, M. (Melissa)
- Rice, Kenneth
- Rivadeneira Ramirez, Fernando
- Rotter, J.I. (Jerome I.)
- Schmidt, F. (Frank)
- Smith, Albert Vernon
- Starr, John
- Taylor, Kent
- Teumer, Alexander
- Thuesen, B.H. (Betina H.)
- Torstenson, E.S. (Eric S.)
- Tracy, Russell
- Tzoulaki, I.
- Zakai, Neil
- Vacchi-Suzzi, C. (Caterina)
- Duijn, Cornelia
- Rooij, Frank
- Cushman, Mary Ann
- Deary, Ian
- Velez Edwards, D.R. (Digna R.)
- Vergnaud, A.-C. (Anne-Claire)
- Wallentin, Lars
- Waterworth, Dawn
- White, H.D. (Harvey D.)
- Wilson, James
- Zonderman, A.B.
- Kathiresan, Sekar
- Grarup, Niels
- Esko, Tõnu
- Loos, Ruth
- Lange, Leslie
- Faraday, N. (Nauder)
- Abumrad, N.A. (Nada A.)
- Edwards, Todd L.
- Ganesh, Santhi
- Auer, Paul
- Johnson, Andrew
- Reiner, Alexander
- Lettre, Guillaume
DOIAbstract
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 × 10−10 for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3 × 10−8 for hematocrit [HCT] and HGB). In African Americans, we identified a nonsense variant in CD36 associated with higher RBC distribu
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